Varaico: Literature-Extracted Genetic Variants

IKBKG

757 papers

RefSeq Summary

This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, ...

Pfam Domains

NEMOaa 44–111UCSCNF-kappa-B essential modulator NEMO

CC2-LZaa 248–344UCSCLeucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator

zf_C2H2_10aa 393–418UCSCC2H2 type zinc-finger

Gene Aliases

HGNC Name

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

HGNC Previous Symbols

IP2; IP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001099857.5

p.G151R

c.451G>C

Surrounding Variants

2 papers

NM_001099857.5

p.E152delFs

c.454delG

3 papers

NM_001099857.5

p.L150F

c.448C>T

2 papers

NM_001099857.5

p.E152*

c.454G>T

1 paper

NM_001099857.5

p.E152V

c.455A>T

1 paper

NM_001099857.5

p.L153fs

c.457_458fs

6 papers

NM_001099856.6

p.L221P

c.662T>C

NM_001099857.5

p.L153P

c.458T>C

24 papers

NM_001099857.5

p.L153R

c.458T>G

1 paper

NM_001099857.5

p.S148Y

c.443C>A

2 papers

NM_001099857.5

p.Q154K

c.460C>A

1 paper

NM_001099857.5

p.Q154*

c.460C>T

1 paper

NM_001099857.5

p.S148P

c.442T>C

1 paper

NM_001099857.5

p.S148A

c.442T>G